ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.913A>G (p.Ile305Val)

gnomAD frequency: 0.00004  dbSNP: rs140899101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001212557 SCV001384145 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497725 SCV002782656 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2021-09-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004538457 SCV004120390 uncertain significance TTC21B-related disorder 2022-12-19 criteria provided, single submitter clinical testing The TTC21B c.913A>G variant is predicted to result in the amino acid substitution p.Ile305Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.12% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-166786856-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004033859 SCV004972701 uncertain significance Inborn genetic diseases 2021-10-22 criteria provided, single submitter clinical testing The c.913A>G (p.I305V) alteration is located in exon 9 (coding exon 9) of the TTC21B gene. This alteration results from a A to G substitution at nucleotide position 913, causing the isoleucine (I) at amino acid position 305 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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